Table 1.
List of divergent mutations between primary and metastatic tumors indicating possible clonal evolution. Novel mutations between tumor pairs are highlighted in bold.
Site of novel mutations | Primary site | Mutations in primary | Mutations in metastasis |
---|---|---|---|
Metastasis | Breast | PIK3CA:c.1633G>A p.E545K |
PIK3CA:c.1633G>A p.E545K TP53:c.853G>A p.E285K |
Breast | PTEN:c.733C>T p.Q245* | ||
Breast | HRAS:c.34G>A p.G12S |
HRAS:c.34G>Ap.G12S SMAD4:c.1553T>C p.I518T |
|
Breast | PIK3CA:c.1633G>A p.E545K |
PIK3CA:c.1633G>A p.E545K PTPN11:c.173A>G p.N58S |
|
Breast | TP53:c.839G>T p.R280I | ||
Breast | KRAS:c.34G>C p.G12R | ||
Breast | KRAS:c.35G>T p.G12V | ||
Breast | PIK3CA:c.278G>C p.R93P | ||
Colon |
PIK3CA:c.1624G>A p.E542K KRAS:c.35G>T p.G12V |
PIK3CA:c.1624G>A p.E542K KRAS:c.35G>T p.G12V SMAD4:c.1081C>A p.R361S |
|
Colon | PIK3CA:c.1624G>A p.E542K | ||
Colon |
APC:c.3340C>T p.R1114* TP53:c.742C>T p.R248W PIK3CA:c.3140A>Gp.H1047R KRAS:c.436G>A p.A146T |
APC:c.3340C>T p.R1114* TP53:c.742C>T p.R248W PIK3CA:c.3140A>G p.H1047R KRAS:c.436G>A p.A146T PIK3CA:c.1030G>A p.V344M APC:c.4348C>T p.R1450* |
|
Colon |
TP53:c.818G>A p.R273H KRAS:c.38G>A p.G13D |
TP53:c.818G>A p.R273H KRAS:c.38G>A p.G13D PIK3CA:c.1638G>T p.Q546H |
|
Colon | KRAS:c.35G>A p.G12D |
KRAS:c.35G>A p.G12D TP53:c.844C>T p.R282W PIK3CA:c.1633G>A p.E545K |
|
Colon | TP53:c.809T>C p.F270S |
TP53:c.809T>C p.F270S NRAS:c.183A>C p.Q61H |
|
Gastric | APC:c.4396G>T p.G1466* | ||
Lung | FBXW7:c.1436G>A p.R479Q | ||
Melanoma |
CDKN2A:c.158_159delp.M53fs NRAS:c.181C>A p.Q61K |
CDKN2A:c.158_159del p.M53fs NRAS:c.181C>A p.Q61K CTNNB1:c.133T>C p.S45P |
|
Renal cell | TP53:c.742C>T p.R248W | ||
Renal cell | TP53:c.581T>G p.L194R | ||
Sarcoma | FBXW7:c.1698G>A p.W566* | ||
Primary | Breast | TP53:c.602T>A p.L201* | |
Breast |
TP53:c.526T>Ap.C176S TP53:c.581T>G p.L194R |
TP53:c.526T>A p.C176S | |
Breast | PIK3CA:c.1624G>A p.E542K | ||
Breast |
TP53:c.722C>A p.S241Y ABL1:c.844G>C p.E282Q PIK3CA:c.1633G>A p.E545K PTEN:c.511C>T p.Q171* |
TP53:c.722C>A p.S241Y ABL1:c.844G>C p.E282Q PIK3CA:c.1633G>A p.E545K |
|
Colon |
KRAS:c.35G>A p.G12D FBXW7:c.1375G>A p.G459R APC:c.2626C>T p.R876* |
KRAS:c.35G>A p.G12D FBXW7:c.1375G>A p.G459R |
|
Colon |
APC:c.4495G>T p.G1499* NRAS:c.35G>T p.G12V PIK3CA:c.1637A>G p.Q546R TP53:c.581T>A p.L194H |
APC:c.4495G>T p.G1499* NRAS:c.35G>T p.G12V PIK3CA:c.1637A>G p.Q546R |
|
Colon |
APC:c.3883G>T p.E1295* TP53:c.817C>T p.R273C SMAD4:c.1082G>A p.R361H |
APC:c.3883G>T p.E1295* TP53:c.817C>T p.R273C |
|
Colon |
TP53:c.527G>A p.C176Y KRAS:c.38G>A p.G13D SMAD4:c.1529G>T p.G510V |
TP53:c.527G>A p.C176Y KRAS:c.38G>A p.G13D |
|
Melanoma |
MLH1:c.1151T>A p.V384D NRAS:c.182A>G p.Q61R KIT:c.1621A>C p.M541L |
MLH1:c.1151T>A p.V384D NRAS:c.182A>G p.Q61R |
|
Melanoma |
BRAF:c.1406G>A p.G469E KRAS:c.40G>A p.V14I |
BRAF:c.1406G>A p.G469E | |
Sarcoma | TP53:c.535C>A p.H179N | ||
Thyroid |
BRAF:c.1799T>A p.V600E AKT1:c.49G>A p.E17K |
BRAF:c.1799T>A p.V600E | |
Both | Small intestine |
TP53:c.856G>A p.E286K ERBB2:c.2524G>A p.V842I |
TP53:c.856G>A p.E286K ERBB4:c.2817G>T p.L939F SMAD4:c.380G>T p.C127F KRAS:c.35G>A p.G12D |
Breast | TP53:c.626_627del p.R209fs | TP53:c.524G>A p.R175H | |
Colon |
KRAS:c.35G>T p.G12V TP53:c.273G>A p.W91* |
KRAS:c.35G>T p.G12V TP53:c.725G>A p.C242Y PIK3CA:c.3140A>G p.H1047R |
|
Colon |
PIK3CA:c.263G>A p.R88Q KRAS:c.38G>A p.G13D |
PIK3CA:c.263G>A p.R88Q GNAS:c.602G>A p.R201H |
|
Colon |
APC:c.3927_3931delp.E1309fs KRAS:c.35G>T p.G12V |
APC:c.3927_3931delp.E1309fs PIK3CA:c.263G>A p.R88Q |
|
Sarcoma |
TP53:c.818G>A p.R273H CSF1R:c.950A>G p.E317G |
TP53:c.844C>T p.R282W TP53:c.871A>G p.K291E CSF1R:c.923A>G p.N308S |